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Abstract：
Caspase (CASP) 3 is an important caspase in the apoptosis pathway and plays an important role in the development and progression of cancer. We hypothesized that genetic variants in CASP 3 may modify individual susceptibility to hepatocellular carcinoma (HCC). Five hundred HCC cases in West China Hospital were selected, and 500 healthy cases with the same gender, age (±5 years), and residence place were selected as control group, with proportion of 1:1. The matrix-assisted laser desorption ionization time-of-flight mass spectrometry method was performed to detect these polymorphisms. Among the 500 cases and 500 controls with DNA samples, the genotyping was successful for the CASP3 polymorphisms (rs6948, rs1049216, and rs12108497) in 486 HCC cases and 495 controls, which were included in the final analyses.The results showed that the genotype frequencies of the CASP3 did not differ significantly between the HCC patients and the control group (P > 0.05). However, when stratifying by age, sex, smoking, drinking, HBV carrier status, and family history of cancer, we found that the variant genotypes (CT + TT) of the CASP3 rs12108497 were associated with a significant increased risk of HCC among smoking individuals (adjusted OR = 2.31, 95 % CI = 1.11-4.79). No significant association was observed between the other two polymorphisms of the CASP3 gene and risk of HCC in any stratification analysis. These results suggest that the CASP3 rs12108497 polymorphism may play a role in the development of HCC among smoking individuals in the Chinese population.
摘要：
Caspase(CASP)3是凋亡通路中重要的caspase,在肿瘤的发生、发展中起着重要作用。我们假设CASP3中的遗传变异可能会改变个体对肝细胞癌（HCC）的易感性。选择华西医院的500例肝癌患者，和500个相同性别的健康病例，年龄（±5岁），以居住地为对照组,比例为1:1。进行了基质辅助激光解吸电离飞行时间质谱方法来检测这些多态性。在500个病例和500个有DNA样本的对照中，在486例HCC病例和495例对照中，CASP3多态性（rs6948，rs1049216和rs12108497）的基因分型是成功的，包括在最终分析中。结果显示，CASP3基因型频率在HCC患者和对照组之间差异无统计学意义（P>0.05）。然而,当按年龄分层时，性别,吸烟,饮酒,HBV携带者状态，癌症家族史,我们发现,CASP3rs12108497的变异基因型(CT+TT)与吸烟个体中HCC风险显著增加相关(校正OR=2.31,95%CI=1.11~4.79).在任何分层分析中，CASP3基因的其他两种多态性与HCC风险之间均未观察到显着关联。这些结果表明，CASP3rs12108497多态性可能在中国人群中吸烟个体的HCC发展中起作用。
